Zobrazeno 11 - 20
of 119
pro vyhledávání: '"John Pappas"'
Autor:
Rachel Rabin, Yoel Hirsch, Wendy K. Chung, Josef Ekstein, Ephrat Levy‐Lahad, Shachar Zuckerman, Hagar Mor‐Shaked, Vardiella Meiner, Kevin T. Booth, John Pappas
Publikováno v:
American Journal of Medical Genetics Part A. 188:3110-3117
Autor:
Lapunzina, Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo
Publikováno v:
Genes; Volume 14; Issue 6; Pages: 1179
SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan–Lumish syndrome (LLS), intellectual developmental disorder,
Autor:
Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt
Publikováno v:
Am. J. Hum. Genet. 110, 146-160 (2023)
Am J Hum Genet
Am J Hum Genet
Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme. Pathogenicity was supported by dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527b80bc5f1809a16c16e4c32929181
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
Autor:
Demetra Asimakopoulou, John Pappas
Publikováno v:
Bulletin of Taras Shevchenko National University of Kyiv. Literary Studies. Linguistics. Folklore Studies. :55-60
The endless debates on Sophocles' Antigone reflect different analytical perspectives as to the multiple and concurrent dualities intertwined in the drama, like legality and legitimacy, lawfulness and morality, expediency and tradition, humans and the
Autor:
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A.N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I. De Bie, Sjoerd J.B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Publikováno v:
Genetics in medicine
Genetics in Medicine, 24, 1583-1591
Genetics in Medicine, 24, 7, pp. 1583-1591
Genetics in Medicine, 24, 1583-1591
Genetics in Medicine, 24, 7, pp. 1583-1591
PURPOSE CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled histone modification through promoting H3K4 and H3K36 methylatio
Autor:
Midhat Rizvi, Tina K Truong, Janet Zhou, Manav Batta, Ellen S Moran, John Pappas, Mary Lynn Chu, Oana Caluseriu, Gilad D Evrony, Elaine M Leslie, Emmanuelle Cordat
Publikováno v:
Human molecular genetics.
Congenital myasthenic syndrome (CMS) is a heterogeneous condition associated with 34 different genes, including SLC5A7, which encodes the high-affinity choline transporter 1 (CHT1). CHT1 is expressed in presynaptic neurons of the neuromuscular juncti
Autor:
Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné
Publikováno v:
American Journal of Medical Genetics Part A. 185:3446-3458
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical
Autor:
Denise Horn, Anna-Elina Lehesjoki, Janina Gburek-Augustat, Amarilis Sanchez-Valle, Kenjiro Kosaki, Katherine Anderson, Anna-Kaisa Anttonen, Tohru Ishitani, Katja Kloth, Manuel Holtgrewe, Sora Harako, Rhonda E. Schnur, Maria J. Guillen Sacoto, Yutaka Hirose, Seiji Mizuno, Shizuka Ishitani, Kota Abe, Tadashi Kaname, Yusaku Kaido, Johannes Luppe, Nadja Ehmke, Michelle M. Morrow, John Pappas, Tatjana Bierhals, Masayuki Oginuma, David Viskochil, Yoshiaki Ohkuma, Tomoko Uehara, Konrad Platzer, Courtney L. Edgar-Zarate, Rachel Rabin, Yuri A. Zarate, Mikko Muona, Nobuhiko Okamoto
Publikováno v:
Genetics in Medicine. 23:1050-1057
Purpose To expand the recent description of a new neurodevelopmental syndrome related to alterations in CDK19. Methods Individuals were identified through international collaboration. Functional studies included autophosphorylation assays for CDK19 G
Publikováno v:
American Journal of Medical Genetics Part A. 185:1589-1597
THG1L-associated autosomal recessive ataxia belongs to a group of disorders that occur due to abnormal mitochondrial tRNA modification. The product of THG1L is the tRNA-histidine guanylyltransferase 1-like enzyme that catalyzes the 3'-5"addition of g
Autor:
Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm
Publikováno v:
Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identifie